Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion> ?p ?o ?g. }
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- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion type Assertion NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_head.
- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion description "[The boy was compound heterozygous for the ABCB11 mutations c.150+3A>C and p.R832C and presented with intractable pruritus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_provenance.
- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion evidence source_evidence_literature NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_provenance.
- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion SIO_000772 25847799 NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_provenance.
- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion wasDerivedFrom befree-2016 NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_provenance.
- NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_assertion wasGeneratedBy ECO_0000203 NP1276253.RAi2fgNzQMkcN-u7tnCchtxlbPpgB3DxWXouhgylaR-zU130_provenance.